It is known that the ever increasing demands in healthcare today posture high prospects and commands onto the research community to establish and come up with new solutions that can improve clinical outcome with improved cost efficiency.
In response to these challenges, modern healthcare is looking for ways to treat patients that are both more efficient and beneficial for the patient, as well as more cost saving. The introduction of regulatory directives are central to our research community in order to manage to meet the demands from e. g., cancer patients that are expecting drugs that are more safe, with lower mortalities, and with a fast onset of efficacy.
Thus, there is a need for new methods for diagnosis, enabling a physician both to diagnose disease and to manifest patient response to therapy.
Together with the National Cancer Institute, NIH and local clinicians and scientists there has been extensive progress made to work out and provide a Protein biomarker discovery and validation strategy. These regulatory guidelines provide high-quality standardized, sensitive, specific, quantitative, and readily accessible protein, peptide, or other biomarkers of health, disease, response to therapy into the approval processes of regulatory agencies (e.g., U.S. Food and Drug Administration; FDA). These developments are vital for healthcare professionals to improve diagnosis by the understanding mode-of-drug action mechanisms, detect cancers at an early stage, identify the likelihood of cancer recurrence, and stratify stages with differential survivals.
Cancer is also known as malignant neoplasm or pathological malignant tumor development. The cancer disease mechanisms involves an abnormal cell growth that will result in the invasion and most possible spread of these cancer cells to other parts of the organs and regions within the body. The most common and signs of symptoms usually includes abnormal bleeding, and/or lengthy cough, unexplained loss of weight and an alteration in bowel movements while these symptoms may indicate cancer, they may also occur due to other issues, and there can be hundreds of different known cancers that affect humans.
It is a well-known fact that the cause of about 22% of cancer deaths is due to tobacco use. Another 10% is due to overweight and obesity, a poor diet, and often a lack of physical exercise and over consumption of alcohol. Other factors include certain infections and/or exposure to infections and environmental pollutants. In the developing world close to 20% of cancers are due to infections such as Hepatitis B, Hepatitis C and human papilloma virus. These factors act, at least partly, by changing the genes and proteins of a cell. Typically many such genetic changes are required before cancer develops. Statistically, approximately 5-10% of cancers are due to genetic defects inherited from a person's parents.
The cancer spread and initiation phases of disease can be detected by certain signs and symptoms or diagnostic tests. It is then typically further investigated by various types of medical imaging platforms, such as X-ray, CT, PET, MRI or mass spectrometry imaging and confirmed by pathology diagnosis of a biopsy. The benefits of screening in breast cancer are valuable both for the patient as well as our society, as proven by the treatment of woman and breast cancer as well as for men with prostate cancer where in both diseases the diagnosis development has decreased the mortality rates significantly over the last decade.
Cancer is often treated with some combination of radiation therapy, surgery and/or chemotherapy. Lately, targeted therapy has been proven very efficient. The chance of survival depends on the type of cancer and the extent of disease at the start of any type of therapy treatment. The statistics globally in cancer is a challenge to the healthcare sector in any country. It has been found that in 2012 approximately 14 million new cases of cancer occurred globally, and these data do not include the patients with skin cancer and other types of malignant melanoma. It caused about 8.2 million deaths or 14.6% of the entire mortality rate globally.
The most common cancer types in males are lung cancer, prostate cancer, colorectal cancer and stomach cancer. The most frequent events in woman are breast cancer, colorectal cancer, lung cancer and cervical cancer. However, if one would include skin and all types of malignant melanoma, this would account for about 40% of the cases. With respect to children, the cancer types vary, and the most common are acute lymphoblastic leukemia and brain tumors. In Africa however, the most common cancer disease is Non-Hodgkin's lymphoma. The financial costs of cancer have been estimated at $1.16 trillion US dollars per year as of 2010.
Personalized medicine is a medical treatment model, tailored to the individual patient. Within Personalized Medicine optimal therapies are often employed for selecting appropriate treatments based on the context of a patient's genetic content or other molecular or cellular analysis
The use of genetic information, pharmacogenomics, has played a major role in certain aspects of personalized medicine, and the term was first coined in the context of genetics, though it has since broadened to encompass all sorts of targeted personal read out diagnosis testing.
Some of the modern advances in personalized medicine rely on “OMICS” technologies (biology research field ending in -omics, such as genomics, proteomics or metabolomics) that confirms a patient's fundamental biology, by the mapping of DNA/RNA, and/or protein which initially leads to confirming disease. The concept of 4P medicine utilizes these OMICS platforms, and today plays a mandatory role in modern healthcare where the Obama healthcare system is investing significant resources for its developments.
By supportive biomolecular analysis, in order to confirm a given disease mutation and whether it can be linked to a certain disease, researchers often do a study called a GWAS, a genome wide analysis. A GWAS study will look at one disease, and then sequence the genome of many patients with that particular disease to look for shared mutations in the genome.
Specific somatic or point-mutations that are determined to be related to a disease by the GWAS analysis can then be used to diagnose specific disease genotypes and possibly phenotypes, by looking at their genome sequence to find that same mutation.
Multiple genes collectively influence the likelihood of developing many common and complex diseases. Consequently, the advances in personalized medicine will create a significant diversification of treatment approaches that has been proven to be specific to the individual and their genome signatures. Personalized medicine will improve efficacy, by providing better diagnose developments, resulting in earlier intervention, and more efficient drug development and therapies.
By being able to investigate each and every patient on an individual basis will allow for a more accurate diagnosis and personalized treatment plan. Modern genotyping provides a detailed account of an individual's DNA sequence; their genome can then be compared to a reference genome, in order to assess the existing genetic variations that can account for conceivable disease status.
In addition to the precise treatment, personalized medicine is able to greatly aid in the advancements of preventive care. This has been proven over the years, where women are being genotyped for certain mutations in the BRCA1 and BRCA2 genes, respectively, investigating predisposition because of a family history of breast-, or ovarian cancer.
By the identity of a multitude of sources of disease presentation, which are mapped out according to mutations that exist within a genome, indicate that the easier they can be identified in an individual, the better opportunity for successful treatments.
By having the genetic content of an individual, will ultimately allow better guided decisions in determining the source of the disease and thus treating it or preventing its progression.
Companion diagnostics is the definition that is being used to test efficacy and safety of a drug specific to a targeted patient group or sub-group. In many instances the companion diagnostics assay is helpful in enhancing the therapeutic treatment efficiency.
Today, in modern healthcare, it is common that physicians often use a trial and error strategy until they find the treatment therapy that is most effective for their patient.
With personalized medicine, these treatments can be more specifically tailored to an individual and give insight into how their body will respond to the drug and if that drug will work based on their genome, and subsequent transcript with a final expressed protein.
Lately, the cancer field has discovered a great deal about the genetic variety of cancer types that is presented within traditional disease pathology. The definition of the tumor heterogeneity among cancer patients is a genetic diversity within a single tumor. Among other prospects, these discoveries raise the possibility of identifying, that drugs with poor outcome applied to a general population, may yet be successful for a proportion of cases with a particular genetic profile.
In Ho Jeong Kwon et. al. (Arch. Pharm. Res. (2015) 38:1718-1727), it was shown that MALDI mass spectrometry imaging (MSI) provides a technology platform that allows the accurate visualization of unlabeled small molecules within the two-dimensional spaces of tissue samples. Mass spectrometry imaging data within various cancers such as malignant melanoma in patients administered with vemurafenib, a protein kinase inhibitor that is targeting BRAF mutated proteins is also provided.
Hence, improved treatment methods taking the individual into account, would be advantageous with novel methods that could aid in the guidance of treatment in the highly complex disease biology.